Varaico: Literature-Extracted Genetic Variants

Gene:NEUROG2
Variant:p.L115R

NEUROG2

56 papers

RefSeq Summary

This gene encodes a neural-specific basic helix-loop-helix (bHLH) transcription factor that can specify a neuronal fate on ectodermal cells and is expressed in neural progenitor cells within the devel...

Pfam Domains

HLHaa 113–165UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

neurogenin 2

HGNC Alias Symbols

Atoh4; Math4A; ngn-2; bHLHa8; NGN2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_024019.4
p.L115R
c.344T>G
Surrounding Variants
1 paper
NM_024019.4
p.Q107*
c.319C>T
1 paper
NM_024019.4
p.R92_A95delFs
c.276_283del8
1 paper
NM_024019.4
p.R92delFs
c.276delC
1 paper
NM_024019.4
p.R92insFs
c.274dupC
1 paper
NM_024019.4
p.R92P
c.275G>C
1 paper
NM_024019.4
p.T149A
c.445A>G
1 paper
NM_024019.4
p.I151M
c.453C>G
1 paper
NM_024019.4
p.R75R
c.225G>A
1 paper
NM_024019.4
p.A71V
c.212C>T
1 paper
NM_024019.4
p.A69V
c.206C>T
1 paper
NM_024019.4
p.A163V
c.488C>T
1 paper
NM_024019.4
p.Q61L
c.182A>T
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